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54 Result(s)

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Result(s)sorted by

Caption : Accreditation =Accreditation
;

    • Accreditation
    • Search of genomic DNA duplications and/or deletions by array-CGH
    • Centre Hospitalier Universitaire Vaudois CHUV
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Deletion / Duplication analysis
    • Technical procedure(s) : Array based techniques
    • More information
    • SWITZERLAND
    • Suisse Romande
    • LAUSANNE
    • Accreditation
    • Search of genomic DNA duplications and/or deletions by CGH arrays / chromosomal microarrays
    • Universität Zürich
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics, Cytogenetics
    • Objective(s) : Deletion / Duplication analysis
    • Technical procedure(s) : Array based techniques
    • More information
    • SWITZERLAND
    • Suisse Alémanique
    • SCHLIEREN
    • Accreditation
    • Molecular diagnosis of Mowat Wilson syndrome (ZFXH1B gene: full mutation screen)
    • Salisbury District Hospital
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • UNITED KINGDOM
    • Wiltshire
    • SALISBURY
    • Accreditation
    • Molecular diagnosis of Mowat-Wilson syndrome (ZEB2 gene)
    • CeGaT GmbH
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
    • Technical procedure(s) : Sanger sequencing, MLPA based techniques
    • More information
    • GERMANY
    • Baden-Württemberg
    • TÜBINGEN
    • Accreditation
    • Molecular diagnosis of Mowat-Wilson syndrome (ZEB2 gene)
    • Zentrum für Humangenetik Mannheim
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • Technical procedure(s) : Sanger sequencing
    • More information
    • GERMANY
    • Baden-Württemberg
    • MANNHEIM
    • Accreditation
    • Molecular cytogenetic diagnosis of Mowat Wilson syndrome (by multiplex FISH of ZFXH1B)
    • Salisbury District Hospital
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Cytogenetics
    • Technical procedure(s) : FISH
    • More information
    • UNITED KINGDOM
    • Wiltshire
    • SALISBURY
    • Accreditation
    • Molecular diagnosis of Mowat-Wilson syndrome (ZEB2 gene)
    • Mitteldeutscher Praxisverbund Humangenetik
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • Technical procedure(s) : Sanger sequencing
    • More information
    • GERMANY
    • Sachsen
    • DRESDEN
    • Accreditation
    • Molecular diagnosis of Mowat-Wilson syndrome (ZEB2 gene)
    • Medizinisch Genetisches Zentrum München
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • Technical procedure(s) : Sanger sequencing
    • More information
    • GERMANY
    • Bayern
    • MÜNCHEN
    • Accreditation
    • Molecular diagnosis of Mowat-Wilson syndrome (entire coding region ZEB2 gene / MLPA; gene panel SCN1A, MECP2, MEF2C, TCF4, UBE3A, CDKL5, ARX, ZEB2, EHMT1, CREBBP, EP300, CHD7, RPS6KA3, ANKRD11, VPS13B, L1CAM, CCDC88C; exome sequencing)
    • Universität Zürich
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • Technical procedure(s) : NGS sequencing (except WES), MLPA based techniques
    • More information
    • SWITZERLAND
    • Suisse Alémanique
    • SCHLIEREN
    • Accreditation
    • Molecular diagnosis of Mowat-Wilson syndrome (ZEB2 gene)
    • Praxis für Humangenetik Freiburg
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • Technical procedure(s) : Sanger sequencing
    • More information
    • GERMANY
    • Baden-Württemberg
    • FREIBURG
    • Accreditation
    • Molecular diagnosis of Mowat-Wilson Syndrome (ZEB2 gene)
    • Radboudumc - Radboud universitair medisch centrum
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • NETHERLANDS
    • Gelderland
    • NIJMEGEN
    • Accreditation
    • Molecular diagnosis in case of Multiple Congenital Anomalies (SNP-array)
    • Radboudumc - Radboud universitair medisch centrum
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • NETHERLANDS
    • Gelderland
    • NIJMEGEN
    • Accreditation
    • Molecular diagnosis in case of Unexplained Intellectual Deficit with Multiple Congenital Anomalies (SNP-array)
    • Radboudumc - Radboud universitair medisch centrum
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • NETHERLANDS
    • Gelderland
    • NIJMEGEN
    • Accreditation
    • Molecular diagnosis of Mowat-Wilson syndrome (ZEB2 gene: RFLP, MLPA)
    • Zentrum für Humangenetik und Laboratoriumsdiagnostik (MVZ)
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Deletion / Duplication analysis
    • Technical procedure(s) : MLPA based techniques
    • More information
    • GERMANY
    • Bayern
    • MARTINSRIED
    • Accreditation
    • Molecular diagnosis of Mowat-Wilson syndrome (ZEB2 gene: sequencing/MLPA)
    • Labor Lademannbogen
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
    • Technical procedure(s) : Sanger sequencing, MLPA based techniques
    • More information
    • GERMANY
    • Hamburg
    • HAMBURG
    • Accreditation
    • Molecular diagnosis of Mowat-Wilson syndrome (ZEB2 gene / sequence analysis entire coding region, deletions-duplications)
    • Reference Laboratory Genetics
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
    • More information
    • SPAIN
    • Cataluña
    • L'HOSPITALET DE LLOBREGAT
    • Accreditation
    • Diagnosis of intellectual disability (Panel)
    • CHU Paris - Hôpital Necker-Enfants Malades
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
    • Technical procedure(s) : NGS sequencing (except WES)
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • Accreditation
    • Diagnosis of Hirschsprung disease (Panel)
    • CHU Paris - Hôpital Necker-Enfants Malades
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
    • Technical procedure(s) : NGS sequencing (except WES)
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • Accreditation
    • Diagnosis of intellectual disability (Panel)
    • CHU de Marseille - Hôpital de la Timone
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
    • Technical procedure(s) : NGS sequencing (except WES)
    • More information
    • FRANCE
    • PROVENCE-ALPES-COTE D'AZUR
    • MARSEILLE
    • Accreditation
    • Cytogenetics pre-natal and post-natal diagnosis of Mowat-Wilson syndrome (by FISH)
    • CHRU de Montpellier - Hôpital Arnaud de Villeneuve
    • Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
    • Specialty(ies) : Cytogenetics
    • Technical procedure(s) : FISH
    • More information
    • FRANCE
    • LANGUEDOC-ROUSSILLON
    • MONTPELLIER
    • Molecular diagnosis of intellectual deficiency and congenital malformation (cryptic subtelomeric and intercalated anomalies by array CGH)
    • CHU Paris - Hôpital Necker-Enfants Malades
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Cytogenetics
    • Objective(s) : Detection of microdeletions/microduplications
    • Technical procedure(s) : Array based techniques
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • Molecular diagnosis of Mowat-Wilson syndrome (ZEB2 gene)
    • Humangenetisches Institut am Universitätsklinikum Erlangen
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • Technical procedure(s) : Sanger sequencing
    • More information
    • GERMANY
    • Bayern
    • ERLANGEN
    • Molecular diagnosis of Mowat-Wilson syndrome (ZEB2 gene)
    • CHU Paris Est - Hôpital d'Enfants Armand-Trousseau
    • Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis
    • Technical procedure(s) : Sanger sequencing, MLPA based techniques
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • Molecular cytogenetic diagnosis of Hirschsprung-mental retardation syndrome
    • Istituto CSS-Mendel
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Cytogenetics
    • More information
    • ITALY
    • LAZIO
    • ROMA
    • Molecular cytogenetic diagnosis of Mowat-Wilson syndrome (FISH analysis of 2q22 deletion; ZFHX1B gene)
    • CHU Paris - Hôpital Necker-Enfants Malades
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Cytogenetics
    • Technical procedure(s) : FISH
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • Molecular diagnosis of Mowat-Wilson syndrome (ZEB2 gene)
    • CHUS - Complejo Hospitalario Universitario de Santiago
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Galicia
    • SANTIAGO DE COMPOSTELA
    • Molecular and molecular cytogenetic diagnosis of Mowat-Wilson syndrome (ZFHX1B gene)
    • Ospedali Galliera
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics, Cytogenetics
    • More information
    • ITALY
    • LIGURIA
    • GENOVA
    • Molecular cytogenetics diagnosis of Mowat-Wilson syndrome (ZEB2 gene)
    • CHU de Marseille - Hôpital de la Timone
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Cytogenetics
    • More information
    • FRANCE
    • PROVENCE-ALPES-COTE D'AZUR
    • MARSEILLE
    • Molecular diagnosis of Mowat-Wilson syndrome. ZEB2 gene.
    • Genetaq
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Andalucía
    • MÁLAGA
    • Molecular diagnosis of Mowat-Wilson syndrome (ZFHX1B gene)
    • Azienda Ospedaliera S. Camillo-Forlanini - Ospedale San Camillo
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ITALY
    • LAZIO
    • ROMA
    • Molecular diagnosis of Mowat-Wilson syndrome (ZEB2 gene)
    • Institut für Klinische Genetik Bonn
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • Technical procedure(s) : Sanger sequencing
    • More information
    • GERMANY
    • Nordrhein-Westfalen
    • BONN
    • Molecular diagnosis of Mowat-Wilson syndrome (ZEB2 gene)
    • Praxis für Humangenetik
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • Technical procedure(s) : Sanger sequencing
    • More information
    • GERMANY
    • Bremen
    • BREMEN
    • Molecular diagnosis of Mowat-Wilson syndrome (ZEB2 gene)
    • Praxis Dres. Gencik
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • Technical procedure(s) : Sanger sequencing
    • More information
    • GERMANY
    • Niedersachsen
    • OSNABRÜCK
    • Molecular diagnosis of Mowat-Wilson syndrome (ZEB2 gene / MLPA and entire coding sequence)
    • IMEGEN - Instituto de Medicina Genómica
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • Technical procedure(s) : NGS sequencing (except WES), Sanger sequencing, Whole Exome Sequencing (WES)
    • More information
    • SPAIN
    • Comunidad Valenciana
    • PATERNA
    • Molecular diagnosis of Mowat-Wilson syndrome (aCGH)
    • Genetadi Biotech S.L.
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • País Vasco
    • DERIO
    • Molecular diagnosis of dysmorphological syndromes by CGH array
    • CHRU de Brest - Hôpital Morvan
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Cytogenetics
    • Objective(s) : Detection of microdeletions/microduplications
    • Technical procedure(s) : Array based techniques
    • More information
    • FRANCE
    • BRETAGNE
    • BREST
    • Molecular diagnosis of Mowat-Wilson syndrome (ZEB2 gene)
    • Praxis für Humangenetik
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • AUSTRIA
    • WIEN
    • WIEN
    • Molecular diagnosis of Mowat-Wilson syndrome (ZEB2 gene / array-CGH)
    • Policlínica Gipuzkoa
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Deletion / Duplication analysis
    • Technical procedure(s) : Array based techniques
    • More information
    • SPAIN
    • País Vasco
    • SAN SEBASTIÁN
    • Molecular diagnosis of Mowat-Wilson syndrome (ZEB2 gene)
    • CIBIR - Centro de Investigación Biomédica de La Rioja
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • La Rioja
    • LOGROÑO
    • Molecular diagnosis of Mowat-Wilson syndrome (ZEB2 gene)
    • Sistemas Genómicos S.L.
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Comunidad Valenciana
    • PATERNA
    • Molecular diagnosis of Mowat-Wilson syndrome due to monosomy 2q22 (ZEB2 gene: entire coding sequence)
    • Centro Inmunológico de Alicante (CIALAB)
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • More information
    • SPAIN
    • Comunidad Valenciana
    • SANT JOAN D'ALACANT
    • Molecular cytogenetic diagnosis of Mowat-Wilson syndrome due to monosomy 2q22 (ZEB2 gene)
    • Istituto CSS-Mendel
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics, Cytogenetics
    • More information
    • ITALY
    • LAZIO
    • ROMA
    • Molecular diagnosis of Mowat-Wilson syndrome (ZEB2 gene: Sequencing of the entire coding region and deletion/duplication by MLPA)
    • CGC Genetics / Centro de Genética Clínica
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
    • Technical procedure(s) : MLPA based techniques
    • More information
    • PORTUGAL
    • NORTE
    • PORTO
    • Molecular diagnosis of Mowat-Wilson syndrome (ZEB2 gene)
    • Klinikum Stuttgart - Standort Olgahospital
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • Technical procedure(s) : Sanger sequencing
    • More information
    • GERMANY
    • Baden-Württemberg
    • STUTTGART
    • Molecular diagnosis of Mowat-Wilson syndrome (ZEB2 gene / arrayCGH, MLPA)
    • Corporación Sanitaria Parc Taulí
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Deletion / Duplication analysis
    • Technical procedure(s) : MLPA based techniques, Array based techniques
    • More information
    • SPAIN
    • Cataluña
    • SABADELL
    • Molecular diagnosis of Mowat-Wilson syndrome due to a ZEB2 point mutation (ZEB2 gene: NGS)
    • CHU Paris Centre - Hôpital Cochin
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Targeted mutation analysis
    • Technical procedure(s) : NGS sequencing (except WES)
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • Diagnosis of Mowat-Wilson syndrome (ZEB2 gene)
    • Bioarray
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
    • Technical procedure(s) : NGS sequencing (except WES), MLPA based techniques
    • More information
    • SPAIN
    • Comunidad Valenciana
    • ELCHE
    • Diagnosis of epilepsy (Panel)
    • CHU Paris Centre - Hôpital Cochin
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
    • Technical procedure(s) : NGS sequencing (except WES)
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • Diagnosis of intellectual disability (Panel)
    • CHU de Strasbourg - Hôpital Civil
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
    • Technical procedure(s) : NGS sequencing (except WES)
    • More information
    • FRANCE
    • ALSACE
    • STRASBOURG
    • Diagnosis of intellectual disability (Panel)
    • CHU de Lyon HCL - GH Est
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
    • Technical procedure(s) : NGS sequencing (except WES)
    • More information
    • FRANCE
    • RHONE-ALPES
    • BRON
    • Diagnosis of corpus callosum agenesis or dysgenesis syndrome (Panel)
    • CHU Paris - Hôpital Necker-Enfants Malades
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
    • Technical procedure(s) : NGS sequencing (except WES)
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • Diagnosis of intellectual disability (Panel ID275)
    • CHU de Poitiers
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
    • Technical procedure(s) : NGS sequencing (except WES)
    • More information
    • FRANCE
    • POITOU-CHARENTES
    • POITIERS
    • Molecular and cytogenetic molecular diagnosis of Mowat-Wilson syndrome (ZFHX1B gene)
    • Policlinico Universitario "A. Gemelli"
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics, Cytogenetics
    • More information
    • ITALY
    • LAZIO
    • ROMA
    • Molecular diagnosis of Mowat-Wilson syndrome (entire coding sequence of ZEB2 gene / deletions by MLPA analysis)
    • Laboratorio de Genética Clínica, S.L.
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
    • Technical procedure(s) : MLPA based techniques
    • More information
    • SPAIN
    • Madrid
    • SAN SEBASTIÁN DE LOS REYES